Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):

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• Epilepsy

• Intellectual disability

• Severe global disability

• Movement disorders (including choreoathetosis, dystonia, and ataxia)

• Cortical-visual impairment

• Lennox-Gastaut syndrome

 

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Patient-derived iPS cell lines (in progress):​

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GABRB2 :  c.896 T>G,   p.I299S (plus isogenic control)

GABRB2:   c.737 T>C,   p.I246T (plus isogenic control)​

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Publications:

 

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation

 

Characterization of the GABRB2-Associated Neurodevelopmental Disorders

 

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy

 

GABAA Receptor Variants in Epilepsy

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GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants - Absalom - Journal of Neurochemistry - Wiley Online Library